Experts say need to raise awareness on Fragile X syndrome
- There is no cure for the genetic disorder; however, treatment can help children learn important skills such as learning to walk, talk, and interact with others.
Fragile X Syndrome is the most common genetic cause of intellectual disabilities such as autism, speech delays, and attention deficit hyperactivity disorder, and can even lead to seizures in 25% of the patients, according to Fragile X society-India that is trying to raise awareness about the condition.
The syndrome is caused by large mutations to the fragile X mental retardation 1 (FMR1) gene that makes a protein needed for normal brain development. It is estimated that nearly 200,000 to 400,000 children in India suffer from the condition, but most remain undiagnosed, said experts.
In addition, people with smaller alterations to the gene are known as carriers or those with pre-mutation. A diagnosis can be made with a blood genetic testing.
“This gene was discovered in the 1990s so it is a much recent finding as compared to other syndromes such as Down’s. There is a lot of research going on the syndrome as well as drugs to directly target the gene. But the early diagnosis is important so that the child and the parents start therapy to deal with the challenges. Also, it gives parents much needed information for planning a future child,” said Debashish Ghoshal, parent advocate at the organisation.
The Fragile X Society was formed to support the families of those affected with the syndrome and launched its first clinic in Mumbai in 2013.
The society calls for Fragile X syndrome screening in all children diagnosed with intellectual disability so that they may receive latest evidence-based treatments. The families must also receive genetic counselling so that they may plan their future children, the society states.
There is no cure for the genetic disorder; however, treatment can help children learn important skills such as learning to walk, talk, and interact with others.
In addition, medicine can be used to control certain behavioural problems.
“Fragile X syndrome leads to delays in intellectual development, predominantly in boys. It can cause hyperactivity and autism. There is a lot of research going on but there is no cure for the disease. The message here is that families of children with autism must go to a genetic clinic and get them tested. There could be others in the family at risk,” said Dr Ratna Puri, head of genetics department at Sir Ganga Ram hospital.
“Also, if one child has fragile X syndrome, the second is also at risk of having it. So, a genetic test for it can be done at 2.5 months of pregnancy and if the second child also has the mutation, the pregnancy may be terminated,” Puri added.